M38T (p.Met38Thr) variant of AGXT (P21549)
M38T (p.Met38Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M38T (p.Met38Thr) variant details
- p.Met38Thr
- ExAC rs780905277
- TOPMed rs780905277
- gnomAD rs780905277
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 6.90
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.86